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September 1983

Usher's SyndromeOphthalmic and Neuro-otologic Findings Suggesting Genetic Heterogeneity

Author Affiliations

From the Departments of Ophthalmology (Dr Fishman) and Otolaryngology-Head and Neck Surgery (Drs Kumar, Joseph, and Torok), and the Epidemiology-Biometry Program (Dr Anderson), University of Illinois Eye and Ear Infirmary and School of Public Health, Chicago.

Arch Ophthalmol. 1983;101(9):1367-1374. doi:10.1001/archopht.1983.01040020369005

• The conditions of 70 patients with Usher's syndrome were studied by ophthalmic and neuro-otologic examinations. Two distinct clinical and presumed genetic types were discernible on the basis of differences in hearing impairment, vestibular sensitivity, and, to a lesser extent, deterioration in retinal photoreceptor function. Distinguishing these two types has relevance for both diagnosis and genetic counseling of patients with Usher's syndrome.

Nuutila A:  Dystropia retinae pigmentosadysacusis syndrome (DRD): A study of the Usher or Hallgren syndrome . J Genet Hum 1970;18:57-58.
Merin S, Abraham FA, Auerbach E:  Usher's and Hallgren's syndromes . Acta Genet Med Gemellol 1974;23:49-55.
Fishman GA:  Usher's syndrome: Visual loss and variations in clinical expressivity . Perspect Ophthalmol 1979;3:97-103.
Fishman GA, Buckman G, van Every T:  Fundus flavimaculatus: A clinical classification , in Documenta Ophthalmologica Proceedings Series , vol 13. The Hague, Dr W Junk Publishers, 1977, pp 213-220.
Nykiel F, Torok N:  A simplified nystagmograph . Ann Otol Rhinol Laryngol 1963;72:647-654.
Torok N:  A new parameter of vestibular sensitivity . Ann Otol Rhinol Laryngol 1970; 79:808-817.
Kumar A:  Diagnostic advantages of the Torok monothermal differential caloric test . Laryngoscope 1981;91:1679-1694.Article
Kumar A, Torok N, Valvassori G:  Central vestibular signs, posterior fossa pathology and computerized tomography: Regional blood brain circulation . Ann Otol Rhinol Laryngol 1981; 90:624-629.
Montgomery DC, Peck EA: Introduction to Linear Regression Analysis . New York, John Wiley & Sons Inc, 1982, pp 360-361.
Von Graefe A:  Exceptionelles Verhalten des Gesichlsfeldes bei Pigmententartung der Netshaut . Von Graefe's Arch Klin Exp Ophthalmol 1858;4:250-253.
Liebreich R:  Abkunft aus Ehen unter Blulsverwandten als grund von Retinitis Pigmentosa . Dtsch Klin 1861;13:53-55.
Usher CH:  On the inheritance of retinitis pigmentosa, with notes of cases . R Lond Ophthalmol Hosp Rep 1914;19:130-236.
Bell J:  Retinitis pigmentosa and allied diseases , in Treasury of Human Inheritance , vol 2, London, Cambridge University Press, 1933, p 1.
Hallgren B:  Retinitis pigmentosa combined with congenital deafness; with vestibulocerebellar ataxia and mental abnormality in a proportion of cases: A clinical and geneticostatistical study . Acta Psychiatr Scand Suppl 1959;34( (suppl 138) ):5-101.Article
Beatty CW, McDonald TJ, Colvard DM:  Usher's syndrome with unusual otologic manifestations . Mayo Clin Proc 1979;54:543-546.
DeHaas EBH, Van Lith GHM, Rijnders J, et al:  Usher's syndrome: With special reference to heterozygotes' manifestations . Doc Ophthalmol 1970;28:166-190.Article
Lindenov H:  The etiology of deaf-mutism, with special reference to heredity . Op Ex Domo Riol Hered Hums Univ Hafniensis 1945;8:1-268.
Davenport SLH, Omenn GS: The heterogeneity of Usher syndrome, publication 426. Amsterdam, Excerpta Medica Foundation, International Congress Series, abstract 215, 1977, pp 87-88.
Bateman JB, Riedmer ED, Levin LS, et al:  Heterogeneity of retinal degeneration and hearing impairment syndromes . Am J Ophthalmol 1980;90:755-767.
Davenport SLH, O'Nuallain S, Omenn GS, et al:  Usher syndrome in four hard-of-hearing siblings . Pediatrics 1978;62:578-583.
McLeod AC, McConnell FE, Sweeney A, et al:  Clinical variations in Usher's syndrome . Arch Otolaryngol 1971;94:321-334.Article
Von Alberth B, Balint A, Kosa A:  Audiometrische Untersuchungen an Kranken mit Degeneratio Pigmentosa Retinae . Klin Monatsbl Augenheilkd 1958;132:797-806.